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Article

Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Update.

Advances in experimental medicine and biology - 1 Jan 2017

Giguère Yves, Berthier Marie-Thérèse

Abstract excerpt

Hereditary tyrosinemia type I (HTI) is a rare autosomal recessive disorder caused by a fumarylacetoacetate hydrolase (FAH) deficiency. If untreated, its acute form is characterized by hepatic failure, renal dysfunction and neurological crisis, and may lead to death. Due to a genetic founder effect in the French-Canadian population, the prevalence of HTI is increased in the province of Quebec (1/19 819), with the...

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Identifiers

PMID: 28755192
DOI: 10.1007/978-3-319-55780-9_13

Genes

FAH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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